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814

Parameter
Biomarker POT1 Full name Protection of telomeres 1 Molecular Type Nucleic acid (DNA)
Molecular Formula Molecular Weight 70 kDa Core Functional Dimensions Susceptibility, prognosis
Disease Angiosarcoma Disease Subtypes /
Organ All cells (telomere maintenance) Test Sample / Technology Platform Tissue (NGS, WES, WGS)
Pathobiological Mechanisms Telomere protective proteins function abnormally and promote chromosome instability and tumorigenesis
Clinical Availability Status Study validation: Enriched in head and neck subtypes
Notes and Dynamics The mutation frequency was 17% (16%-19%), and the mutation probability in AS was 11 times higher than that in other tumors. Most of the mutations were missense mutations

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This study was supported by the Scientific Research Innovation Capability Support Project for Young Faculty (SRICSPYF-ZY2025112), the Fundamental and Interdisciplinary Disciplines Breakthrough Plan of the Ministry of Education of China (JYB2025XDXM612)

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